ClinVar Miner

List of variants in gene TSHZ1 reported as uncertain significance for aural atresia, congenital

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001308210.2(TSHZ1):c.-727G>A rs762506031 0.00014
NM_001308210.2(TSHZ1):c.-726C>G rs763707409 0.00006
NM_001308210.2(TSHZ1):c.1892C>T (p.Pro631Leu) rs201765142 0.00001
NM_001308210.2(TSHZ1):c.2753T>C (p.Met918Thr) rs754333350 0.00001
NM_001308210.2(TSHZ1):c.*441_*442dup rs777123658
NM_001308210.2(TSHZ1):c.*442_*445del rs886054119
NM_001308210.2(TSHZ1):c.-866dup rs66582660
NM_001308210.2(TSHZ1):c.-867_-866dup rs66582660
NM_001308210.2(TSHZ1):c.1984_1986del (p.Glu662del) rs756583304
NM_001308210.2(TSHZ1):c.2127C>G (p.Asp709Glu) rs549076959

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